Structural and functional brain alterations revealed by neuroimaging in CNV carriers

Clara Moreau (1, 2, 3, 4) , Christopher Rk Ching (5) , Kuldeep Kumar (2, 4) , Sebastien Jacquemont (2, 4) , Carrie Bearden (6)

1 GHFC (UMR_3571 / U-Pasteur_1) - Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions
2 CHU Sainte Justine [Montréal]
3 CRIUGM - Centre de Recherche de l'Institut Universitaire de Gériatrie de Montréal
4 UQAM - Université du Québec à Montréal = University of Québec in Montréal
5 Keck School of Medicine [Los Angeles]
6 Semel Institute for Neuroscience and Human Behavior [Los Angeles, Ca]

Copy Number Variants (CNVs) are associated with elevated rates of neuropsychiatric disorders. A 'genetics-first' approach, involving the CNV effects on the brain, irrespective of clinical symptomatology, allows investigation of mechanisms underlying neuropsychiatric disorders in the general population. Recent years have seen an increasing number of larger multisite neuroimaging studies investigating the effect of CNVs on structural and functional brain endophenotypes. Alterations overlap with those found in idiopathic psychiatric conditions but effect sizes are twofold to fivefold larger. Here we review new CNV-associated structural and functional brain alterations and outline the future of neuroimaging genomics research, with particular emphasis on developing new resources for the study of high-risk CNVs and rare genomic variants.

Domains: Neuroscience; Psychiatrics and mental health; Genetics

Clara Moreau, Christopher Rk Ching, Kuldeep Kumar, Sebastien Jacquemont, Carrie Bearden. Structural and functional brain alterations revealed by neuroimaging in CNV carriers. Current Opinion in Genetics and Development, 2021, 68, pp.88-98. ⟨10.1016/j.gde.2021.03.002⟩. ⟨pasteur-03500714⟩